Abstract
THE RELEVANCE OF GENETIC PREGNANCY TESTS IN THE DIAGNOSIS OF SEVERE BIRTH DEFECTS

Cristina-Crenguta Albu*, Dinu-Florin Albu, Stefan-Dimitrie Albu

ABSTRACT

We report one clinical case of a 33-year-old, Caucasian woman who is pregnant for the first time. Ultrasound examination showed a singleton fetus with multiple malformations: unilateral cleft and lip palate, spina bifida and congenital heart abnormality with tricuspid valve regurgitation. Amniocentesis was done, and the fetal chromosomal analysis revealed a fetus with normal male karyotype: 46,XY. After a personalized post-procedure genetic counselling the parents opted to terminate the pregnancy. The autopsy confirm the prenatal ultrasound diagnosis.

Keywords: birth defects, cleft lip/palat, spina bifida, ultrasound examination, prenatal diagnosis.


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